poster presentation A novel mutation in Classic Maple Syrup Urine Disease: One Case Report

Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disease caused by mutations in the BCKDHA, BCKDHB, DBT and DLD genes, which encode the E1α, E1β, E2 and E3 subunits of the branched-chain α-keto acid dehydrogenase (BCKD) complex, respectively. This complex is involved in the metabolism of branched-chain amino acids. MSUD can be divided into 4 types, depending on the amount of BCKD enzyme activity present in the affected individuals.The most common type of MSUD is the classic form. In this study, we analyzed the DNA sequences of BCKDHA gene in an infant who suffered from MSUD and died at the age of 17 days.

Keywords:

Maple syrup urine diseasem , BCKD complex , BCKDHA gene